ClinVar Miner

List of variants in gene SIK1 reported as benign for not provided

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_173354.5(SIK1):c.1848C>T (p.Pro616=) rs430552 0.73160
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) rs3746951 0.18525
NM_173354.5(SIK1):c.948C>T (p.Gly316=) rs17004546 0.03875
NM_173354.5(SIK1):c.693G>A (p.Thr231=) rs113685366 0.01016
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_173354.5(SIK1):c.906C>T (p.Gly302=) rs113379599 0.00615
NM_173354.5(SIK1):c.930T>C (p.Gly310=) rs112660017 0.00609
NM_173354.5(SIK1):c.1463-7C>T rs142866662 0.00575
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) rs34164089 0.00424
NM_173354.5(SIK1):c.859_861del (p.Pro287del) rs374476526 0.00195
NM_173354.5(SIK1):c.790G>A (p.Ala264Thr) rs112011493 0.00172
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102 0.00102
NM_173354.5(SIK1):c.1744+10G>A rs376512810 0.00071
NM_173354.5(SIK1):c.966G>A (p.Thr322=) rs148266853 0.00051
NM_173354.5(SIK1):c.875T>A (p.Phe292Tyr) rs150241738 0.00026
NM_173354.5(SIK1):c.546G>T (p.Thr182=) rs146068550 0.00025
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_173354.5(SIK1):c.1064G>A (p.Arg355His) rs759838082 0.00003
GRCh37/hg19 21q22.3(chr21:44821867-44839153)x3
GRCh37/hg19 21q22.3(chr21:44823479-44838661)x3
GRCh37/hg19 21q22.3(chr21:44823479-44853859)x3
GRCh37/hg19 21q22.3(chr21:44825536-44838661)x3
GRCh37/hg19 21q22.3(chr21:44825536-44839263)x3
GRCh37/hg19 21q22.3(chr21:44825536-44845968)x3
GRCh37/hg19 21q22.3(chr21:44834825-44860542)x1
GRCh37/hg19 21q22.3(chr21:44835301-44852616)x3
GRCh37/hg19 21q22.3(chr21:44835301-44853859)x3
GRCh37/hg19 21q22.3(chr21:44835301-44865282)x3
GRCh37/hg19 21q22.3(chr21:44835301-44871189)x3
GRCh37/hg19 21q22.3(chr21:44835508-44852616)x3
GRCh37/hg19 21q22.3(chr21:44835508-44854995)x3
GRCh37/hg19 21q22.3(chr21:44836770-44848070)x4
NC_000021.9:g.43403465G>T
NC_000021.9:g.43403629G>A
NC_000021.9:g.43403668C>T
NM_173354.5(SIK1):c.1300G>C (p.Val434Leu) rs111780079
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) rs140222760
NM_173354.5(SIK1):c.1605G>A (p.Pro535=) rs113434279
NM_173354.5(SIK1):c.274-3del rs550878772

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